Cure My Disease

Don't miss your cure!

Log in / Sign up

Acrofacial dysostosis Cincinnati type

MONDO:0014651

Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.

Also known as: POLR1A acrofacial dysostosis, acrofacial dysostosis caused by mutation in POLR1A, AFDCIN, acrofacial dysostosis, Cincinnati type

40 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Disease (618) Musculoskeletal system disorder (196) Hereditary disease (172) Bone disorder (47) Human disease (14) Developmental defect during embryogenesis (7) Skeletal system disorder (4) Congenital limb malformation (3) Bone development disease (2) Disease of genetic or genomic mechanism (2)

Trials to join now! 19 Not yet recruiting 6 Not yet finished but already full! 4 Completed 10 Terminated 1

Scientists gather leftover surgical tissue to unlock secrets of bone disease

Knowledge-focused Terminated

This study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …

Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:52 UTC